Authors: Li Jin, Li Ruimin, Li Ya, Dai Lijuan, Meng Zhihong, Pang Chenjiu DOI: 10.3760/cma.j.cn115989-20240715-00195 Published: 2025 -07 -10 Citation Li Jin, Li Ruimin, Li Ya, et al. Genotype and clinical phenotype analysis of posterior pleomorphic corneal dystrophy associated with a new variant of ZEB1 gene[J]. Chin J Exp Ophthalmol, 2025, 43(7):618-624. DOI: 10.3760/cma.j.cn115989-20240715-00195. ABSTRACT […]
Tag: Missense mutation
Mutations analysis of FRMD7 gene in idiopathic congenital nystagmus families
Authors:Du Wei, Zhang Ye, Xie Zhenggao DOI: 10.3760/cma.j.issn.2095-0160.2019.09.008 Published 2019-09-10 Cite as Chin J Exp Ophthalmol, 2019,37(9): 726-729. Abstract [View PDF] [Read Full Text] Objective To reveal the pathogenic mutations in Chinese families with idiopathic congenital nystagmus(ICN) Methods Six families with ICN were recruited from Subei […]
Screening of pathogenic mutation in a Chinese family with congenital pulverulent cataract
Authors:Ji Kangkang, Gu Zhengyu, Wang Yaru, Bao Weili, Liao Rongfeng DOI: 10.3760/cma.j.issn.2095-0160.2019.09.011 Published 2019-09-10 Cite as Chin J Exp Ophthalmol, 2019,37(9): 740-744. Abstract [View PDF] [Read Full Text] Objective To analysis the pathogenic mutation and the clinical characteristics of a three generation family with congenital pulverulent […]